H100L (p.His100Leu) variant of GJB2 (Gap junction beta-2 protein)
H100L (p.His100Leu) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Nonsyndromic genetic hearing loss; Autosomal recessive nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
H100L (p.His100Leu) variant details
- p.His100Leu
- rs1422767764
- ClinGen CA387461446
- ClinVar RCV000781416
- ClinVar RCV001873191
- Pathogenic/Likely pathogenic
- not provided; Nonsyndromic genetic hearing loss; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.81
- MetaLR 0.93
- MetaSVM 1.06
- CADD 23.80
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Nonsyndromic genetic hearing loss; Autosomal reces)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)